Canonical Allele Identifier: CA413854739

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687670A>T , CM000685.2:g.108687670A>T	GRCh38
NC_000023.10:g.107930900A>T , CM000685.1:g.107930900A>T	GRCh37
NC_000023.9:g.107817556A>T	NCBI36
NG_011977.1:g.252747A>T
NG_011977.2:g.252747A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.4504A>T MANE Select	NP_203699.1:p.Lys1502Ter
ENST00000328300.11:c.4504A>T MANE Select	ENSP00000331902.7:p.Lys1502Ter
NM_000495.4:c.4486A>T	NP_000486.1:p.Lys1496Ter
NM_000495.5:c.4486A>T	NP_000486.1:p.Lys1496Ter
NM_033380.2:c.4504A>T	NP_203699.1:p.Lys1502Ter
ENST00000328300.10:c.4504A>T	ENSP00000331902.6:p.Lys1502Ter
ENST00000361603.6:c.4486A>T	ENSP00000354505.2:p.Lys1496Ter
ENST00000361603.7:c.4486A>T	ENSP00000354505.2:p.Lys1496Ter
ENST00000510690.2:n.998A>T
ENST00000515658.1:c.300A>T
XM_005262070.2:c.4495A>T	XP_005262127.1:p.Lys1499Ter
XM_006724616.2:c.4504A>T	XP_006724679.1:p.Lys1502Ter
XM_011530849.1:c.4180A>T	XP_011529151.1:p.Lys1394Ter
XM_011530849.2:c.4519A>T	XP_011529151.2:p.Lys1507Ter
XM_011530851.1:c.2077A>T	XP_011529153.1:p.Lys693Ter
XM_017029259.2:c.4510A>T	XP_016884748.1:p.Lys1504Ter
XM_017029260.1:c.4501A>T	XP_016884749.1:p.Lys1501Ter
XM_017029263.2:c.2839A>T	XP_016884752.1:p.Lys947Ter